Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Glucosephosphate isomerase (GPI) deficiency in humans is an autosomal recessive disorder, which results in nonspherocytic hemolytic anemia of variable clinical expression. A 4-year-old female with severe congenital hemolytic anemia had low red cell GPI activity of 15.5 IU/g Hb (50% of normal mean) i...

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Veröffentlicht in:Blood cells, molecules, & diseases molecules, & diseases, 2003-05, Vol.30 (3), p.258-263
Hauptverfasser: Clarke, Julia L, Vulliamy, Tom J, Roper, David, Mesbah-Namin, Seyed A, Wild, Barbara J, Walker, James I, Will, Andrew M, Bolton-Maggs, Paula H, Mason, Philip J, Layton, D.Mark
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Sprache:eng
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